DMRT1
Developmental stage
Expressed in the genital ridges of six-week-old male embryos. Becomes confined to the forming seminiferous tubules (probably Sertoli cells) at seven weeks. Not detected in female embryos.
Function
Transcription factor that plays a key role in male sex determination and differentiation by controlling testis development and male germ cell proliferation. Plays a central role in spermatogonia by inhibiting meiosis in undifferentiated spermatogonia and promoting mitosis, leading to spermatogonial development and allowing abundant and continuous production of sperm. Acts both as a transcription repressor and activator: prevents meiosis by restricting retinoic acid (RA)-dependent transcription and repressing STRA8 expression and promotes spermatogonial development by activating spermatogonial differentiation genes, such as SOHLH1. Also plays a key role in postnatal sex maintenance by maintaining testis determination and preventing feminization: represses transcription of female promoting genes such as FOXL2 and activates male-specific genes. May act as a tumor suppressor. May also play a minor role in oogenesis (By similarity).
Involvement in disease
Testicular germ cell tumor
TGCT
A common malignancy in males representing 95% of all testicular neoplasms. TGCTs have various pathologic subtypes including: unclassified intratubular germ cell neoplasia, seminoma (including cases with syncytiotrophoblastic cells), spermatocytic seminoma, embryonal carcinoma, yolk sac tumor, choriocarcinoma, and teratoma.
None
The disease may be caused by variants affecting the gene represented in this entry.
46,XY sex reversal 4
SRXY4
A condition characterized by male-to-female sex reversal in the presence of a normal 46,XY karyotype. Patients display complete or partial gonadal dysgenesis and a chromosome 9p deletion.
None
The disease may be caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the DMRT family.
Tissue Specificity
Testis-specific. Expressed in prostate cancer (at protein level).
Cellular localization
- Nucleus
Alternative names
DMT1, DMRT1, Doublesex- and mab-3-related transcription factor 1, DM domain expressed in testis protein 1